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Links from MedGen

Items: 1 to 100 of 224

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(L4919V)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
RYR2
(L3724F)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+1 more
GUncertain significance
RYR2
(K3311fs)
Deletion
(frameshift variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GLikely pathogenic
RYR2
(L3470V)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
RYR2
(I2721L)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
RYR2
(D4093E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+1 more
GUncertain significance
RYR2
(G4711E)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+1 more
GUncertain significance
RYR2
(T4934K)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GUncertain significance
RYR2
(S3055R)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+2 more
GUncertain significance
RYR2
(N4917K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(L3935F)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GLikely pathogenic
RYR2
(I2746M)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GConflicting classifications of pathogenicity
RYR2
Single nucleotide variant
(intron variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+2 more
GUncertain significance
RYR2
(M2162L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(H270Y)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+3 more
GUncertain significance
RYR2
(C4948Y)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GLikely benign
RYR2
(I2108V)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+2 more
GUncertain significance
RYR2
(M3231I)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+3 more
GUncertain significance
RYR2
(V3875L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+2 more
GLikely pathogenic
RYR2
(L4694V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(G2647D)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(R3613G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(Y2848C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(G199V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
LOC126806068, RYR2
(Y4287*)
Single nucleotide variant
(nonsense)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(M3263L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+2 more
GUncertain significance
RYR2
(I881V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+2 more
GUncertain significance
RYR2
(G4662R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+2 more
GUncertain significance
RYR2
(V2313A)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+3 more
GUncertain significance
RYR2
(C131Y)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(I1432V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(F2304S)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GLikely benign
LOC126806068, RYR2
(E4222K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
RYR2
(Y1102D)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
RYR2
(R1888W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
RYR2
(I2789T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GUncertain significance
RYR2
(W275*)
Single nucleotide variant
(nonsense)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GUncertain significance
RYR2
(D1138E)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
LOC126806068, RYR2
(T4196I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely pathogenic
RYR2
(I3995L)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
GPathogenic
RYR2
(T3229I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GUncertain significance
RYR2
(I1771V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GConflicting classifications of pathogenicity
RYR2
(G2271C)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GUncertain significance
RYR2
(G348D)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GUncertain significance
RYR2
(R332Q)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+3 more
GUncertain significance
RYR2
(M3235V)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+5 more
GUncertain significance
RYR2
(G2273R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+3 more
GUncertain significance
LOC126806068, RYR2
(S4289G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GConflicting classifications of pathogenicity
RYR2
(G806R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
LOC126806068, RYR2
(E4213G)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GConflicting classifications of pathogenicity
RYR2
(T3538P)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(Y1486C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
RYR2
(K439T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(S4539R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
RYR2
(M393I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
RYR2
(E1891K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GConflicting classifications of pathogenicity
RYR2
(A2632V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
RYR2
(D849N)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GConflicting classifications of pathogenicity
RYR2
(T27S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+3 more
GUncertain significance
RYR2
(G1082R)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+5 more
GUncertain significance
LOC126806068, RYR2
(R4307H)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GConflicting classifications of pathogenicity
RYR2
(A4740fs)
Duplication
(frameshift variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(T1056M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+6 more
GUncertain significance
RYR2
(V4544M)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GUncertain significance
RYR2
(A3555T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(L759V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(S2501A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
RYR2
(A820G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(V1511L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+4 more
GUncertain significance
RYR2
(K2283N)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+3 more
GUncertain significance
RYR2
(E1837K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GConflicting classifications of pathogenicity
RYR2
(R4790Q)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+5 more
GUncertain significance
RYR2
(P2078L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LOC126806068, RYR2
(L4354R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
RYR2
(G519A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(I1842T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(G622R)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+3 more
GUncertain significance
RYR2
(M655T)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(E4064D)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+4 more
GUncertain significance
RYR2
Single nucleotide variant
(synonymous variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
(R4257Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
RYR2
(I1973V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
RYR2
(V2524I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GUncertain significance
RYR2
(R3510L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
RYR2
(E1867A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GUncertain significance
RYR2
(R1941C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
RYR2
Single nucleotide variant
(intron variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+4 more
GUncertain significance
RYR2
(P4688A)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
RYR2
(R520L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
RYR2
(D785N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
RYR2
(M2584V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
RYR2
(V873M)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GUncertain significance
RYR2
(A1568V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
RYR2
(Q3727R)
Single nucleotide variant
(missense variant)
Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
+3 more
GUncertain significance
RYR2
(P1848S)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 2
+5 more
GUncertain significance
RYR2
(D4646A)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GUncertain significance
LOC126806067, RYR2
(A1311T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GUncertain significance
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